OMIA:000585-9986 : Leg weakness in Oryctolagus cuniculus (rabbit)

In other species: Mallard , turkey , dog , domestic cat , pig , taurine cattle , sheep

Categories: Limbs / fins / digit / tail phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Congenital defect of the hindlimbs that prevents standing, because the hindlimbs are splayed. In some cases all limbs are affected.

Inheritance: Joosten et al. (1981): "Pedigree analysis and genetic mating tests showed that, in contrast to published reports, the disease is not determined by a single recessive gene with complete expressivity. The underlying genetic system is composed of one recessive gene with reduced expressivity or of more genes with the probable involvement of environmental factors."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Joosten et al. (1981): "Femurs of abnormal limbs displayed endotorsion of the shaft and anteversion of the neck as the main features. Endotorsion of the femur was associated with exotorsion of the tibia. Dislocation of the hip was not observed. There was no abnormnal laxity of the joint capsule or the ligamentaum teres."

Pathology: Joosten et al. (1981): "A study on muscle fiber diameter showed that fibers of splayleg animals were in general smaller, particularly in the semitendinosus. Atypical mitochondria of muscles were observed in all rabbits, but more frequently in splayleg animals."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000585-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

1981 Joosten, H.F., Wirtz, P., Verbeek, H.O., Hoekstra, A. :
Splayleg: a spontaneous limb defect in rabbits. Genetics, gross anatomy, and microscopy. Teratology 24:87-104, 1981. Pubmed reference: 7302875. DOI: 10.1002/tera.1420240110.

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  • Created by Imke Tammen2 on 09 Apr 2021